Canonical Allele Identifier: CA480178543

Gene: PMEL

Linked Data

• dbSNP Id: rs1461310761
• MyVariant Identifiers: chr12:g.56348103T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954319T>G , CM000674.2:g.55954319T>G	GRCh38
NC_000012.11:g.56348103T>G , CM000674.1:g.56348103T>G	GRCh37
NC_000012.10:g.54634370T>G	NCBI36
NG_028086.1:g.17394A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1881A>C MANE Select	ENSP00000448828.1:p.Val627=
ENST00000449260.6:c.1902A>C	ENSP00000402758.2:p.Val634=
ENST00000548493.5:c.1881A>C	ENSP00000447374.1:p.Val627=
ENST00000548747.5:c.1881A>C	ENSP00000448828.1:p.Val627=
ENST00000549564.1:n.460A>C
ENST00000550447.5:c.768A>C	ENSP00000448029.1:p.Val256=
ENST00000550464.5:c.1623A>C	ENSP00000450036.1:p.Val541=
ENST00000552882.5:c.1881A>C	ENSP00000449690.1:p.Val627=
NM_001200053.1:c.1623A>C	NP_001186982.1:p.Val541=
NM_001200054.1:c.1902A>C	NP_001186983.1:p.Val634=
NM_006928.4:c.1881A>C	NP_008859.1:p.Val627=
XM_006719569.1:c.1881A>C	XP_006719632.1:p.Val627=
XM_011538685.1:c.1902A>C	XP_011536987.1:p.Val634=
XM_011538686.1:c.1776A>C	XP_011536988.1:p.Val592=
XM_011538687.1:c.1755A>C	XP_011536989.1:p.Val585=
NM_001320121.1:c.1776A>C	NP_001307050.1:p.Val592=
NM_001320122.1:c.1755A>C	NP_001307051.1:p.Val585=
NM_001384361.1:c.1881A>C MANE Select	NP_001371290.1:p.Val627=
NM_006928.5:c.1881A>C	NP_008859.1:p.Val627=